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IEMbase 0374: ANGPTL3-related angiopoietin-like 3 deficiency

Scope

Field Value
IEMbase ID 374
Nosology 15.5.1.01
Gene ANGPTL3
External IDs OMIM:605019; OMIM:604774
Generated mapping MAPPED; Abetalipoproteinemia.yaml
Candidate DisMech targets No exact local target; Abetalipoproteinemia.yaml is shared hypolipidemia context only
Review date 2026-07-07

IEMbase phenotype signal

IEMbase represents ANGPTL3-related angiopoietin-like 3 deficiency, with alternate names familial hypobetalipoproteinemia type 2 and combined familial hypolipidemia. Inheritance is autosomal recessive.

The cached record is clinically sparse and states no clinical significance. Biochemical rows include plasma HDL cholesterol, plasma LDL cholesterol, serum triglyceride, and plasma Apo B. There are no treatment rows.

DisMech phenotype coverage

The generated mapping to Abetalipoproteinemia.yaml is a false positive exact mapping driven by shared hypobetalipoproteinemia identifiers or labels. Local abetalipoproteinemia models MTTP-related failure of apoB-lipoprotein assembly, not ANGPTL3 deficiency.

The Familial Hypercholesterolemia file discusses ANGPTL3 as a therapeutic target through evinacumab in homozygous FH, but this is drug-target context for LDL lowering, not a curated ANGPTL3 deficiency disease.

Concordance and completeness

Judgement: false positive exact mapping; ANGPTL3-related combined familial hypolipidemia is a local disease gap or scope-review item.

IEMbase and abetalipoproteinemia share low LDL, low triglyceride, low HDL, and low Apo B biochemical directionality, but the causal mechanism differs. ANGPTL3 loss affects lipoprotein lipase and endothelial lipase inhibition, whereas the local abetalipoproteinemia file models MTTP loss and apoB-lipoprotein export failure.

Curation actions

  • Do not treat Abetalipoproteinemia.yaml as the exact target for this record.
  • Create or prioritize a separate ANGPTL3 combined familial hypolipidemia entry if this low-LDL condition is in DisMech scope.
  • Keep local FH/evinacumab ANGPTL3 content as therapeutic pathway context only.
  • Review the IEMbase "no clinical significance" row before deciding disease scope and phenotype import.